Antonio Narzisi

Istituto Scientifico Stella Maris - Università di Pisa

STELLA MARIS SCIENTIFIC INSTITUTE

Roma 02 Aprile 2014

Traiettorie evolutive e indicatori prognostici

Definition of

Autism Spectrum Disorder

Definition of

Autism Spectrum Disorder

Autism Spectrum Disorders - prevalence

Aumento in incidenza dovuto a un reale aumento di casi ? Migliore classificazione ? Classificazione errata ?

Cambiamenti nell’epidemiologia

• Storicamente, il 70% - 85% dei casi con autismo era

associato a disabilita’ intellettiva, ma non e’ piu’

cosi’

– 14 studi recenti di popolazione riportano dati di

QI. Nei vari campioni da 30% a 85% mostrano

QI nella media (Mottron, 2011)

• 75%-90% di bambini con ASD acquisiscono

linguaggio funzionale (in confronto alla stima

precedente del 50%)

ASDs sono caratterizzati da una grande

eterogeneita’

Anche se ASDs sono definiti da un particolare pattern di

comportamento, questi comportamenti sono molto diversi.

ASD sfida la generalizzazione

Intelligenza

Ritardo grave---------------------------------------------------------------------------------------Superiore

Interazione Sociale

Ritirato---------------------------------------Passivo--------------------------------------Attivo ma strano

Comunicazione

Non verbale--------------------------------------------------------------------------------------------Verbale

Comportamenti

Intenso------------------------------------------------------------------------------------------------------Lieve

Aspetti sensoriali

Ricerca ----------------------------------------------------------------------------------------------Avversione

Abilita’ motorie

Non coordinato------------------------------------------------------------------------------------Coordinato

ASD e’ un disturbo dello sviluppo

• I sintomi e i

comportamenti

cambiano con lo

sviluppo

• Lo sviluppo

viene influenzato

da ASD

Diagnosticare ASD correttamente

presenta difficolta’

• Non esiste un test biologico per ASD

• Variabilita’ nei comportamenti tra vari bambini con ASD

• Variabilita’ nei comportamenti nello stesso bambino con

ASD in vari contesti e nel corso del tempo/sviluppo

• Sovrapposizione di sintomi tra ASD e altri disturbi dello

sviluppo (ex., disabilita’ cognitive, disturbi del linguaggio,

ADHD, ansia, etc.)

One group of 10% of children experienced rapid gains,

moving from severely affected to high functioning

Understanding what drives these outcomes is thus

critical

• Although ASD are generally assumed to be lifelong, there is evidence that between 3% and 25% of children reportedly lose their ASD diagnosis and enter the normal range of cognitive, adaptive and social skills.

* Santocchi, Muratori, Narzisi (2011)

Stability for ASD 86,8 % (59 out of 68)

- Stability for Autism (n.21): 100%Vs 68-100 % other studies

- Stability for PDDN0S (n.47): 80,5% (9 children going out of the spectrum)

Vs 63-100% other studies

Increase of Instability for ASDwhen first dx <36ms (n.6) vs >36ms (n.3)

Background

Dawson & Rogers 2010

Green 2010

Ospina et al, PlosOne 2008

Classification of the behavioural and developmental

interventions for ASD

101 studies included in the review

55 Randomized Controlled Trials

32 Controlled Trials4 Prospective Cohort Studies

10 Retrospective Cohort Studies

- Tutti i trattamenti sono tesi ad ottenere modifiche funzionali del comportamento sociale e non-sociale (no differenza behavioral vsdevelopmental)

Outcome Primario

Outcomes Secondari

Indicatori Prognostici

Sviluppo cognitivo Livello Adattivo

- Qualità di Vita

- Stress Genitoriale

- Comorbidità con altri disturbi

Risultati

Nessun effetto sulla riduzione della sintomatologia dell’autismoEffetti positivi dovuti al trattamento riguardano:

- Sincronia Genitoriale

- Iniziative del bambino con i genitori

02

04

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act

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syn

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TAU base PACT base TAU mid PACT mid TAU end PACT end

Sincronia Genitoriale

02

04

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ld a

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initi

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nTAU base PACT base TAU mid PACT mid TAU end PACT end

Iniziative del bambino con i genitori

PACT=TAU

Green(Lancet 2010):22/74 (30%)

autism>spectrum

Randomized controlled trials

• Are interesting because

– They are consensual (common tongue)

– They are the most efficient design which brings a

clear answer to a simple question

– They resist to conflict of interest

– They have proved that they are able to improve

medical practice

Bruno FalissardNew perspectives in the evaluation of treatments in autistic spectrum disorders

Randomized controlled trials

• Are problematic because

– They have become a totem

– Most often, they do not give a clinically relevant

answer (to which patients should be proposed the

treatment ? What about the interaction between

treatment and environment ?)

– Their results are difficult to generalize

– They cost a lot of money

– This is especially true in the area of autism

Bruno FalissardNew perspectives in the evaluation of treatments in autistic spectrum disorders

Artificial Neural Networks

• Artificial Neural Networks (ANNs) are one of the most

advanced fields in Artificial Intelligence.

• ANNs are mathematical algorithms able to link

complex and non linear data to a particular outcome.

• ANNs are powerful tools to compute every kind of

continuous functions (linear or non linear).

Machine learning systems

Classical statistics

86.9%

13.1%

Popularity of statistical modeling techniques in

medicine

Source: PubMed; 2013

1_Young age (Sally Rogers, 1998)

2_Parent inclusion and school inclusion

3_Total number of hours of treatment was not predictive of

better outcome

4_high stress levels of parents

5_Low language levels and cognitive perfomances

6_high behavioral problems of the child

Outcome predictors

The amount of intervention (in terms of number) was not related to outcome.

of hours) was not related to outcome

Total number of hours of treatment was not predictive of better

outcome

School Inclusion

Parent Involvement

Grazie per l’attenzione !